Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

488 tests · Page 4 of 17

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Char syndrome (TFAP2B gene, NGS)

  Code 10435 · Next-generation sequencing (NGS)

  Genes: TFAP2B

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Chondrodysplasia punctata (9-gene panel, NGS)

  Code 10501 · Next-generation sequencing (NGS)

  Genes: AGPS, ARSE, CSTA, GNPAT, KRT6A, KRT6B, LBR, PEX14 and 1 more

  Turnaround time: 33 working days

• Chondrodysplasia with congenital joint dislocations (CHST3 gene, NGS)

  Code 10498 · Next-generation sequencing (NGS)

  Genes: CHST3

  Turnaround time: 33 working days

• Chorionic villus karyotype

  Code 3042 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 12 working days

• CHRNG gene testing (NGS, CNVs)

  Code 3522 · Next-generation sequencing (NGS) + CNVs

  Genes: CHRNG

  Turnaround time: 33 working days

• Chromosomal microarray analysis, SNPs, 750K, postnatal testing

  Code 3291 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days

• Chromosomal microarray analysis, SNPs, 750K, prenatal testing

  Code 3292 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days

• Chromosome 9 subtelomeric deletions (FISH)

  Code 3319 · Fluorescence in situ hybridization (FISH)

  Genes: FISH Cromossoma 9

  Turnaround time: 10 working days

• Chudley-McCullough syndrome (GPSM2 gene, NGS)

  Code 10474 · Next-generation sequencing (NGS)

  Genes: GPSM2

  Turnaround time: 33 working days

• CK syndrome (NSDHL gene, NGS)

  Code 10484 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• CLN6 gene testing (NGS, MLPA)

  Code 3500 · Next-generation sequencing (NGS) + MLPA

  Genes: CLN6

  Turnaround time: 33 working days

• Clubfoot (PITX1 point mutation)

  Code 11290 · Next-generation sequencing (NGS)

  Genes: PITX1

  Turnaround time: 33 working days

• Cockayne syndrome (2-gene panel, NGS)

  Code 10488 · Next-generation sequencing (NGS)

  Genes: ERCC6, ERCC8

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC6 gene, NGS)

  Code 10489 · Next-generation sequencing (NGS)

  Genes: ERCC6

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC8 gene, NGS)

  Code 10487 · Next-generation sequencing (NGS)

  Genes: ERCC8

  Turnaround time: 33 working days

• Coffin-Lowry syndrome (RPS6KA3 gene, NGS)

  Code 10490 · Next-generation sequencing (NGS)

  Genes: RPS6KA3

  Turnaround time: 33 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Complex cortical dysplasia with other brain malformations (KIF21A gene, NGS)

  Code 10665 · Next-generation sequencing (NGS)

  Genes: KIF21A

  Turnaround time: 33 working days

• Congenital erythroblastopenia (Blackfan-Diamond anemia) and differential diagnosis (18-gene panel, NGS)

  Code 10154 · Next-generation sequencing (NGS)

  Genes: GATA1, RPL11, RPL15, RPL19, RPL26, RPL35A, RPL5, RPS10 and 10 more

  Turnaround time: 33 working days

• Congenital erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 3 (CAV1 gene, NGS)

  Code 11092 · Next-generation sequencing (NGS)

  Genes: CAV1

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 4 (PTRF gene, NGS)

  Code 11093 · Next-generation sequencing (NGS)

  Genes: PTRF

  Turnaround time: 33 working days

• Congenital heart defects (NKX2-5 gene, NGS)

  Code 10534 · Next-generation sequencing (NGS)

  Genes: NKX2-5

  Turnaround time: 33 working days